BACKGROUND: Advancements in genetic disorder management mark a transformative era in healthcare. This study aimed to assess knowledge, attitudes, and barriers to using genetic services among the Egyptian population.
METHODS: A cross-sectional study was used to achieve the aim of the study. A convenient sample was used to involve 385 residents of Damanhur City and Beni-Suef City to represent Upper and Lower Egypt. A validated questionnaire covering socio-demographic details, genetic knowledge, attitudes, and perceived barriers to using genetic services was used.
RESULTS: Regarding genetic knowledge, 70.9% of the participants reported an unsatisfactory level of knowledge about genetics. Furthermore, 67.6% expressed a negative attitude toward genetic services. Concerns about whether the test result is positive were the most common obstacle, cited by 64.94% of participants, followed by cost, which 60.78% of people found to be a major barrier. Significant associations emerge between socio-demographic factors and awareness levels.
CONCLUSIONS: The findings illuminate significant gaps in knowledge and attitude levels where less than a third of the participants had a satisfactory level of knowledge and about one-third had a positive attitude regarding genetic testing. Barriers such as concerns about treatment strategies, financial constraints, and conflict with personal beliefs emerge as critical obstacles. The identified associations between socio-demographic factors and awareness levels underscore the need for targeted interventions tailored to specific demographic groups.
CONCLUSIONS: This study recommends developing and implementing culturally sensitive awareness campaigns about genetics tailored to the specific demographic characteristics of the Egyptian population.

OBJECTIVE: To develop normative data for meibomian gland dysfunction (MGD) parameters, using non-contact meibography technique of Sirius Costruzione Strumenti Oftalmici (CSO) machine, in an Egyptian population sample.
METHODS: Observational, cross-sectional, analytic study, in which 104 Egyptian volunteers were included. Both upper lids were examined, using \"Sirius CSO\" machine. Each eyelid was given a degree of meibomian gland loss (MGL), which was calculated by the software of the machine.
RESULTS: Mean percentage MGL in right upper lid was of 30.9%±12.6%, and that of left upper lid was 32.6%±11.8%. Thirty-four volunteers (32.7%) had first-degree MGL in their right upper lid, and 67.3% had second-degree loss. One volunteer (1%) had zero-degree MGL in left upper lid, 28 (26.9%) had first-degree loss, and 75 (72.1%) had second-degree loss. Degree of MGL in right upper eyelid was not related to age, but degree of MGL in left upper eyelid increased with age. There was statistically significant difference between both genders for degree of MGL in right eye (P=0.036) and in left eye (P=0.027).
CONCLUSIONS: Noncontact meibography is a useful non-invasive tool for diagnosing MGL. MGL is diagnosed in 100% of apparently normal individuals; 26.9%-32.7% of which have first-degree MGL, and 67.3%-72.1% have second-degree MGL.

BACKGROUND: Tacrolimus (TAC) is the mainstay of immunosuppressive regimen for kidney transplantations. Its clinical use is complex due to high inter-individual variations which can be partially attributed to genetic variations at the metabolizing enzymes CYP3A4 and CYP3A5. Two single nucleotide polymorphisms (SNPs), CYP3A4*22 and CYP3A5*3, have been reported as important causes of differences in pharmacokinetics that can affect efficacy and/or toxicity of TAC.
OBJECTIVE: Investigating the effect of CYP3A4*22 and CYP3A5*3 SNPs individually and in combination on the TAC concentration in Egyptian renal recipients.
METHODS: Overall, 72 Egyptian kidney transplant recipients were genotyped for CYP3A4*22 G>A and CYP3A5*3 T>C. According to the functional defect associated with CYP3A variants, patients were clustered into: poor (PM) and non-poor metabolizers (Non-PM). The impact on dose adjusted through TAC concentrations (C0) and daily doses at different time points after transplantation was evaluated.
RESULTS: Cyp3A4*1/*22 and PM groups require significantly lower dose of TAC (mg/kg) at different time points with significantly higher concentration/dose (C0/D) ratio at day 10 in comparison to Cyp3A4*1/*1 and Non-PM groups respectively. However, CyP3A5*3 heterozygous individuals did not show any significant difference in comparison to CyP3A5*1/*3 individuals. By comparing between PM and Non-PM, the PM group had a significantly lower rate of recipients not reaching target C0 at day 14.
CONCLUSIONS: This is the first study on Egyptian population to investigate the impact of CYP3A4*22 and CYP3A5*3 SNPs individually and in combination on the TAC concentration. This study and future multicenter studies can contribute to the individualization of TAC dosing in Egyptian patients.

BACKGROUND: Osteoporosis (OP) is the most prevalent metabolic bone disease. Numerous genetic loci are strongly related to OP. AXIN1 is a significant gene that serves an important role in the WNT signaling pathway. The aim of this study was to explore the association between the AXIN1 genetic polymorphism (rs9921222) and OP susceptibility.
METHODS: A total of 101 subjects were enrolled in the study (50 patients with OP and 51 healthy individuals). Genomic DNA was extracted from whole blood using the QIAamp DNA Blood Mini Kit, and the AXIN1 gene polymorphism (rs9921222) was genotyped by TaqMan allelic discrimination assays. A logistic regression analysis was used to assess the association between genotypes and OP risk.
RESULTS: We found that AXIN1 rs9921222 had a significant association with the susceptibility of OP under the homozygote model (TT vs. CC: OR = 16.6, CI = 2.03-136.4, p = 0.009), (CT vs. CC: OR = 6.3, CI = 1.23-31.8, p = 0.027), recessive genetic model (TT vs.TC-CC: OR = 13.6, CI = 1.7-110.4, p = 0.015), and the dominant model (TT-TC vs. CC: OR = 9.7, CI = 2.6-36.3, p < 0.001). Allele T was significantly associated with OP risk (T vs. C: OR = 10.5, CI = 3.5-31.15, p = 0.001). There was a statistically significant difference between genotypes in mean platelet volume (p = 0.004), and platelet distribution width (p = 0.025). In addition, lumbar spine bone density, and femur neck bone density were significantly different between genotypes (p < 0.001).
CONCLUSIONS: AXIN1 rs9921222 was associated with OP susceptibility in the Egyptian population and should be considered a potential determinant risk for OP.

Hypertension is a leading problem; it affects around thirty million adult Egyptians, according to the last national registry. The exact prevalence of resistant hypertension (RH) in Egypt wasn\'t spotted before. The purpose of this study was to determine the prevalence, predictors, and impact on adverse cardiovascular outcomes among adult Egyptians with RH.
The present study examined a cohort of 990 hypertensive patients who were divided into two groups based on their blood pressure control; group I (n = 842) patients who achieved blood pressure control and group II (n = 148) patients who met the RH definition criteria. All patients underwent a close follow-up for one year to evaluate the major cardiovascular events.
The prevalence of RH was 14.9%. The main predictors impacting the cardiovascular outcomes of RH were advanced age (≥65 years), the presence of chronic kidney diseases, a BMI ≥ 30 kg/m2, and NSAID use. After one year of follow-up, the RH group displayed noticeably higher rates of major cardiovascular events, including new-onset atrial fibrillation (6.8% vs. 2.5%, P = 0.006), cerebral stroke (4.1% vs. 1.2%, P = 0.011), myocardial infarction (4.7% vs. 1.3%, P = 0.004), and acute heart failure (4.7% vs. 1.8%, P = 0.025).
The prevalence of RH in Egypt is moderately high. Patients with RH have a far higher risk of cardiovascular events than those whose blood pressure is within control.

UNASSIGNED: To determine the spherical aberration, pupil size, and other key refractive and topographic parameters in a large cohort of Egyptian cataract surgery candidates, and to investigate any existent relations between the spherical aberration and other possibly related parameters.
UNASSIGNED: This is a cross-sectional, descriptive study that was conducted at Ain Shams University Hospitals, Cairo, Egypt. The study was performed on the right eyes of 1658 cataract surgery candidates. The mean corneal spherical aberration [Z4] and the pupil diameter, both photopic [P. Pupil] and mesopic [M. Pupil], were measured by the Oculus Keratograph 3, while the white-to-white corneal diameter [WTW], average keratometric readings [average K], axial length measurements [AL] and Anterior Chamber Depth [ACD] were all obtained from the IOL Master 500.
UNASSIGNED: The mean age was 65 ± 11.3 years. The mean value of the Z4 was +0.26 ± 0.12 μm [95% Confidence Interval \"CI\" (0.2570-0.2681)]. The mean values of the measured parameters were: P. Pupil 2.43 ± 0.87 mm [95% CI (2.3867-2.4700)], M. Pupil 4.61 ± 0.91 mm [95% CI (4.5683-4.6557)], WTW 11.72 ± 0.44 mm [95% CI (11.6969-11.7394)], average K 43.89 ± 1.89 D [95% CI (43.7938-43.9701)], AL 24.23 ± 2.21 mm [95% CI (24.1118-24.3166)], and ACD 3.16 ± 0.43 mm [95% CI (3.1414-3.1827)]. Weak statistically significant correlations were found between the Z4 and each of age (r = 0.049, p = 0.044), average K (r = 0.191, p < 0.001), and ACD (r = 0.122, p < 0.001). Multivariate analysis showed weaker relations between Z4 and both average K (beta coefficient= 0.091) and ACD (beta coefficient= 0.130), with an r2 = 0.024.
UNASSIGNED: This is the first normative data report of corneal spherical aberration [Z4], pupil size, and related refractive and topographic parameters in an old Egyptian population. The detected correlations have a weak clinical relevance and negate the existence of significant relations between the Z4 and the studied refractive and topographic parameters.

UNASSIGNED: Tacrolimus is an approved first-line immunosuppressive agent for kidney transplantations. Part of interindividual and interethnic differences in the response of patients to tacrolimus is attributed to polymorphisms at CYP3A5 metabolic enzyme. CYP3A5 gene expression status is associated with tacrolimus dose requirement in renal transplant recipients.
UNASSIGNED: In this study, we determined the allelic frequency of CYP3A5*3 in 76 renal transplanted patients of Egyptian descent. Secondly, we evaluated the influence of the CYP3A5 gene variant on tacrolimus doses required for these patients as well on dose-adjusted tacrolimus trough-concentrations.
UNASSIGNED: The CYP3A5*3 variant was the most frequent allele detected at 85.53%. Additionally, our results showed that, mean tacrolimus daily requirements for heterozygous patients (CYP3A5*1/*3) were significantly higher compared to homozygous patients (CYP3A5*3/*3) during the first year after kidney transplantation.
UNASSIGNED: This is the first study in Egypt contributing to the individualization of tacrolimus dosing in Egyptian patients, informed by the CYP3A5 genotype.

BACKGROUND: The purpose of this study was to evaluate the number of roots and canal morphology of maxillary permanent molars in an Egyptian population.
METHODS: Six hundred fifty-seven cases were included in this study. Digitized images from cone-beam computed tomographic scanning were assessed by 2 endodontists. The number of roots and canal configuration according to Vertucci were tabulated. Age, sex, and bilateral distribution differences were calculated.
RESULTS: All maxillary first molars showed 3-root configuration, whereas maxillary second molars showed 3-, 2-, and single-root configurations. For maxillary first molars, the most common Vertucci classifications for the mesiobuccal root were type II (2-1, 45.6%), type IV (2-2, 27.27%), and type I (1, 25.45%). For maxillary second molars, the most common Vertucci classifications for the mesiobuccal root were type II (2-1, 47.1%), type I (1, 42.06%), and type IV (2-2, 8.03%). The prevalence of a second mesiobuccal canal is statistically not affected by either sex, tooth position (right or left side), or age.
CONCLUSIONS: Under the conditions of this study, the root canal configurations of an Egyptian population showed that the most common Vertucci classifications for the mesiobuccal root for maxillary first molars were type II (2-1), type IV (2-2), and type I (1). For maxillary second molars, the most common types were type II (2-1), type I (1), and type IV (2-2). Pre-evaluation of the endodontic case using cone-beam computed tomographic digital imaging provides better information of root canal morphology, which might improve the management and prognosis of the case.

Diseases of the immune and the skeletal systems should be studied together for the deep interaction between them. Many studies consider osteoporosis (OP) as a risk factor for the prediction of disease progression in rheumatoid arthritis (RA). The aim of this research is to study the effect of four single nucleotide polymorphisms (SNPs) on RA patients with and without OP. The examined SNPs (MTHFR (C677T, and A1298C), TGFβ1 (T869C), and TNFB (A252G)) were tested by genotyping 17 RA patients with OP and 72 RA patients without OP. Associations were tested using four models (multiplicative, dominant, recessive, and co-dominant). The studied SNPs were not significantly associated with the risk of OP in RA. MTHFR, TGFβ1, and TNFB polymorphisms don\'t appear to be clinically useful genetic markers for predicting RA severity in Egyptian women population.

The purpose of this study was to investigate canal configuration of mandibular first premolars in an Egyptian population. Two hundred fifty human extracted mandibular first premolars were collected from Egyptian patients and a small hole in the center of the occlusal surface of each tooth was made perforating the roof of the pulp chamber. Teeth were decalcified by immersing in nitric acid and dehydrated in ascending concentrations of ethyl alcohol. A waterproof black ink was passively injected from the occlusal hole into pulp system and stained teeth were immersed in methyl salicylate solution for clearing. Standardized pictures of the cleared teeth were obtained and anatomical features of the root canal were observed. The average length of the mandibular first premolar teeth was 22.48 ± 1.74 mm, one-rooted teeth were 96.8% and the two-rooted were 3.2%. Vertucci Type I canal configuration represented the highest percentage (61.2%) followed by Type V (16.4%), Type IV (13.2%), Type II (5.6%) and Type III (2.8%). Vertucci Type VI canal configuration represented the lowest percentage (0.4%) and a complex configuration was found in one tooth. Accessory canals were detected in 22.8% and inter-canal connections were observed in 24.8% while 54% showed apical delta. Such knowledge is clinically useful for localization and negotiation of canals of mandibular first premolar, as well as their subsequent management in Egyptian population.